A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism

Gatto, Emilia M; Rojas, Galeno J; Nemirovsky, Sergio I.; Da Prat, Gustavo; Persi, Gabriel; Cesarini, Martin; Etcheverry, Jose L; Gonzalez Rojas, Natalia; Parisi, Virginia; Cordoba, Marta

doi:https://doi.org/10.1016/j.parkreldis.2020.06.005

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A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism.pdf (207.6Kb)

Date
2020

Author

Gatto, Emilia M

Rojas, Galeno J

Nemirovsky, Sergio I.

Da Prat, Gustavo

Persi, Gabriel

Cesarini, Martin

Etcheverry, Jose L

Gonzalez Rojas, Natalia

Parisi, Virginia

Cordoba, Marta

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URI: https://hdl.handle.net/11323/7826

Citar con DOI: https://doi.org/10.1016/j.parkreldis.2020.06.005

Enlace externo del documento: https://www.sciencedirect.com/science/article/abs/pii/S135380202030170X#!

Abstract

Mutations in presenilin-1 (PSEN1) account for the majority of cases of familial autosomal dominant early-onset Alzheimer's disease (AD) as well as in sporadic forms. Atypical presentations are reported including extrapyramidal signs. In the last years, a pleiotropic effect of some PSEN1 variants has been reported in Parkinson's disease (PD).

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